Publications by authors named "Arcomaria Garofalo"

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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.
Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca Del Vecchio Blanco, Marco Savarese, Arcomaria Garofalo

PLoS One· October 2020

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Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
Teresa Giugliano, Marco Savarese, Arcomaria Garofalo, Esther Picillo, Chiara Fiorillo

Genes (Basel)· October 2018

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Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
Marco Savarese, Annalaura Torella, Olimpia Musumeci, Corrado Angelini, Guja Astrea, Arcomaria Garofalo

Neuromuscul Disord· July 2018

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Functional Antagonism between OTX2 and NANOG Specifies a Spectrum of Heterogeneous Identities in Embryonic Stem Cells.
Dario Acampora, Luca Giovanni Di Giovannantonio, Arcomaria Garofalo, Vincenzo Nigro, Daniela Omodei

Stem Cell Reports· November 2017

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The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Arcomaria Garofalo

Neurology· July 2016

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Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast.
Dario Acampora, Daniela Omodei, Giuseppe Petrosino, Arcomaria Garofalo, Marco Savarese

Cell Rep· June 2016

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Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
Giuseppina Di Fruscio, Arcomaria Garofalo, Margherita Mutarelli, Marco Savarese, Vincenzo Nigro

Eur J Hum Genet· January 2016

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Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Annalaura Torella, Marina Fanin, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Arcomaria Garofalo

PLoS One· December 2013

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